|
Term ID: | 5939 |
Name: | Jagell Holmgren Hofer syndrome |
Definition: | |
Alternative IDs: | |
ParentIDs: | MESH:D000505|MESH:D004483|MESH:D007057|MESH:D008607|MESH:D009056 |
TreeNumbers: | C07.465.525/C537364 |C07.650.525/C537364 |C10.597.606.643/C537364 |C11.338.362/C537364 |C16.131.831.512/C537364 |C16.131.850.525/C537364 |C16.614.492/C537364 |C17.800.329.937.122/C537364 |C17.800.428.333/C537364 |C17.800.804.512/C537364 |C23.300.035/C537364 |C23.88 |
Synonyms: | Ichthyosis alopecia eclabion ectropion mental retardation |Ichthyosis With Alopecia, Eclabion, Ectropion, And Mental Retardation |
Slim Mappings: | Congenital abnormality|Eye disease|Infant-newborn disease|Mental disorder|Mouth disease|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms|Skin disease |
Reference: |
MedGen: C537364
MeSH: C537364
OMIM:
Genes: | Phenotypes | | Disease Causing ClinVar Variants | |
|